Variant report

Variant	nsv978920
Chromosome Location	chr2:31928970-31931380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31930983..31932586-chr2:31934508..31937402,2	K562	blood:
2	chr2:31931339..31933417-chr2:31949272..31951087,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192907319	chr2:31928974-31928975	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184748743	chr2:31928986-31928987	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550558932	chr2:31928992-31928993	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570653496	chr2:31929007-31929008	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550288802	chr2:31929118-31929119	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72855877	chr2:31929139-31929140	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137965118	chr2:31929157-31929158	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532804244	chr2:31929168-31929169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189526417	chr2:31929199-31929200	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116577381	chr2:31929216-31929217	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554881818	chr2:31929233-31929234	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72855878	chr2:31929383-31929384	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112121040	chr2:31929435-31929436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527932374	chr2:31929442-31929443	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372654139	chr2:31929467-31929468	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556985105	chr2:31929495-31929496	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550965918	chr2:31929497-31929498	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577019786	chr2:31929517-31929518	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201504504	chr2:31929556-31929557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397712507	chr2:31929563-31929564	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397768875	chr2:31929564-31929565	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191313040	chr2:31929588-31929589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559715556	chr2:31929600-31929601	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77481888	chr2:31929609-31929610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149068777	chr2:31929624-31929625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183694075	chr2:31929652-31929653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531100896	chr2:31929659-31929660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34757482	chr2:31929707-31929708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143121233	chr2:31929724-31929725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189298434	chr2:31929768-31929769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181264100	chr2:31929785-31929786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568434694	chr2:31929803-31929804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566610601	chr2:31929809-31929810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7603784	chr2:31929866-31929867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566837231	chr2:31929885-31929886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7603892	chr2:31929946-31929947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534110407	chr2:31929958-31929959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186521015	chr2:31929960-31929961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555243946	chr2:31930006-31930007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567484699	chr2:31930025-31930026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190065375	chr2:31930029-31930030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138875797	chr2:31930108-31930109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181761531	chr2:31930115-31930116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142885946	chr2:31930136-31930137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76162314	chr2:31930147-31930148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373117265	chr2:31930148-31930149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538330252	chr2:31930164-31930165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35926504	chr2:31930179-31930180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186134281	chr2:31930190-31930191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190987955	chr2:31930191-31930192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31928200-31931000	Weak transcription	Gastric	stomach
2	chr2:31928800-31929600	Flanking Active TSS	Liver	Liver
3	chr2:31928800-31931400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:31929200-31931600	Enhancers	Adipose Nuclei	Adipose
5	chr2:31929400-31930400	Enhancers	HepG2	liver
6	chr2:31929600-31930200	Enhancers	Liver	Liver
7	chr2:31929800-31930400	Enhancers	Fetal Intestine Large	intestine
8	chr2:31930200-31930400	Flanking Active TSS	Liver	Liver
9	chr2:31930400-31930600	Enhancers	Liver	Liver
10	chr2:31930600-31930800	Flanking Active TSS	Liver	Liver
11	chr2:31930800-31933200	Enhancers	Liver	Liver
12	chr2:31931000-31931600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links